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P.P.7 04 A homozygous COL6A1 splice site mutation in siblings with Ullrich congenital muscular dystrophy

✍ Scribed by S. Makri; V. Allamand; P. Richard; C. Gartioux; N. Terki; S. Maugenre; M. Ait-Kaci; P. Guicheney

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

C.P.2.06 Spectrum of COL6A1 mutations in

✍ P. Richard; C. Ledeuil; C. Gartioux; L. Torrieri; L. Briñas; A. Ferreiro; A. Tou 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 49 KB

P.P.7 02 Effect on collagen VI extra-cel

✍ P. Sabatelli; Y. Zou; S. Squarzoni; C. Bönnemann; L. Merlini; G. Pepe; B. Giusti 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 45 KB

C.P.2.04 Skipping of exon 16 in COL6A3 i

✍ Y. Zou; J. Schessl; A. Lampe; Y. Hu; C. Jiménez-Mallebrera; G. Schreiber; I. Sto 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 51 KB

P.1.10 siRNA-mediated allele-specific si

✍ Bolduc, V.; Zou, Y.; Bonnemann, C.G. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 46 KB

EM.P.5.01 Gene expression and proteome p

✍ M. Bovolenta; S. De Palma; M. Vasso; N.M. Maraldi; F. Gualandi; L. Merlini; P. S 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 42 KB

EM.P.4.03 Extensive sequencing of COL6A

✍ E. Martoni; A. Urciuolo; C. Trabanelli; M. Fabris; P. Sabatelli; E. Bertini; E. 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 40 KB